REEP1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human REEP1 wild-type allele is located in the vicinity of 2p11.2 and is approximately 124 kb in length. This allele, which encodes receptor expression-enhancing protein 1, plays a role in endoplasmic reticulum formation and remodeling, and in the cell surface localization of odorant receptors. Mutations in the gene are associated with autosomal dominant spastic paraplegia 31, autosomal dominant distal hereditary motor neuronopathy 12 and autosomal recessive distal hereditary motor neuronopathy 6.

**Synonyms:** - C2orf23 - Chromosome 2 Open Reading Frame 23 Gene - DSMA6 - FLJ13110 - HMN5B - HMND12 - HMNR6 - Receptor Accessory Protein 1 wt Allele - Receptor Expression Enhancing Protein 1 Gene - SPG31 - Yip2a